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患者和家庭对胸前大动脉疾病级联查的观点:混合方法评估
Riccardo Giuseppe Abbasciano1, Joanne Miksza2, Julian Barwell3
1Department of Cardiovascular Sciences, University of Leicester, Leicester, UK. rga8@leicester.ac.uk.
European journal of human genetics : EJHG
|March 2, 2026
概括
胸前动脉疾病 (TAD) 查的障碍包括分散的服务和患者的困惑. 用户友好的决策支持工具 (DST) 和临床医生教育可以改善查参与和TAD预防.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 对胸前大动脉疾病 (TAD) 的级联查建议用于二次预防和生存,但吸收率较低.
- 个人和组织障碍导致TAD查计划的参与率较低.
研究的目的:
- 调查影响参与胸前动脉疾病 (TAD) 级联查的障碍和促进因素.
- 探索患者和临床医生的查,基因测试和决策支持工具 (DST) 的观点.
主要方法:
- 来自临床医生和公众焦点小组 (n=19) 和采访 (n=4) 的定性数据.
- 来自全国患者/亲属调查 (n=242) 的定量数据,涉及人口统计,遗传检测和共享决策.
- 以行为理论和框架方法为指导的主题分析.
主要成果:
- 确定的主要障碍包括分散的服务,不一致的临床医生知识和患者对遗传测试的困惑.
- 遗传测试的接受率较低:幸存者的47%,亲属的21-44%.
- 决策支持工具 (DST) 的促进者包括用户友好性,多模式访问,清晰的沟通和专业认可.
结论:
- 显著的障碍,包括心理负担和系统问题,在TAD级联查中造成了共享决策差距.
- 以用户为中心的多模式决策支持工具 (DST) 对于改善患者和家庭参与至关重要.
- 加强临床医生的教育和结构化的家庭沟通对于通过级联查有效预防TAD至关重要.
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